Abnormal facial shape, and Arthritis

Diseases related with Abnormal facial shape and Arthritis

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Arthritis that can help you solving undiagnosed cases.


Top matches:

Low match WINCHESTER SYNDROME; WNCHRS


Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to multicentric osteolysis, nodulosis, and arthropathy (MONA ), but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported (summary by Zankl et al., 2007).

Related symptoms:

  • Short stature
  • Flexion contracture
  • Severe short stature
  • Osteoporosis
  • Coarse facial features


SOURCES: OMIM MENDELIAN

More info about WINCHESTER SYNDROME; WNCHRS

Low match SINGLETON-MERTEN SYNDROME 2; SGMRT2


Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by Jang et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Muscle weakness
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SINGLETON-MERTEN SYNDROME 2; SGMRT2

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA


Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA Is also known as congenital spondyloepiphyseal dysplasia|spranger-wiedemann disease|sedc

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA

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Other less relevant matches:

Low match MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE


Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

Low match MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1


Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 Is also known as med1|edm1|multiple epiphyseal dysplasia, comp-related|polyepiphyseal dysplasia type 1

Related symptoms:

  • Short stature
  • Brachydactyly
  • Gait disturbance
  • Severe short stature
  • Arthralgia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1

Low match FAMILIAL OSTEOCHONDRITIS DISSECANS


Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.

FAMILIAL OSTEOCHONDRITIS DISSECANS Is also known as osteochondritis dissecans and short stature|od|osteochondritis dissecans, short stature, and early-onset osteoarthritis

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Pain
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL OSTEOCHONDRITIS DISSECANS

Low match LARON SYNDROME


Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.

LARON SYNDROME Is also known as complete growth hormone insensitivity|primary growth hormone insensitivity|gh receptor deficiency|growth hormone receptor deficiency|laron-type dwarfism|short stature due to growth hormone resistance|pituitary dwarfism ii|primary growth hormone resistance

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Abnormal facial shape
  • Motor delay
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about LARON SYNDROME

Low match CONGENITAL TUFTING ENTEROPATHY


Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.

CONGENITAL TUFTING ENTEROPATHY Is also known as intestinal epithelial cell dysplasia|enteropathy, congenital tufting|ied|cte|intestinal epithelial dysplasia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL TUFTING ENTEROPATHY

Low match COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES


Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).

COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES Is also known as combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay|roifman-chitayat syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES

Low match EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2


Ehlers-Danlos syndrome classic-like-2 is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018).See {606408} for another classic-like EDS syndrome. For a discussion of the classification of EDS, see {130000}.

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cryptorchidism
  • Ptosis
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Arthritis

Symptoms // Phenotype % cases
Osteoarthritis Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Severe short stature Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Short neck Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Arthritis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the skeletal system Brachydactyly Micrognathia Underdeveloped supraorbital ridges

Rare Symptoms - Less than 30% cases


Hyperlordosis Micromelia Limitation of joint mobility Joint dislocation Abnormality of epiphysis morphology Motor delay Frontal bossing Inguinal hernia Hip dislocation Genu valgum Osteopenia Epiphyseal dysplasia Multiple epiphyseal dysplasia Global developmental delay Gait disturbance Arthralgia Joint stiffness Short metacarpal Waddling gait Mild short stature Depressed nasal bridge Midface retrusion Flexion contracture Skeletal dysplasia Delayed skeletal maturation Generalized hypotonia Osteoporosis Glaucoma Myopia Small for gestational age Failure to thrive High palate Diarrhea Posteriorly rotated ears Hyperactivity Blepharophimosis Coloboma Abdominal distention Anal atresia Coarse facial features Sepsis Sloping forehead Abnormal intestine morphology Long nose Celiac disease Choanal stenosis Microcephaly Hypoplastic nasal bridge Trichorrhexis nodosa Hypohidrosis High forehead Hypoglycemia Delayed puberty Delayed eruption of teeth Microdontia Hypoplasia of penis Blue sclerae Depressed nasal ridge Short toe Aplasia/Hypoplasia involving the nose Hypercholesterolemia Reduced number of teeth High pitched voice Truncal obesity Prematurely aged appearance Corneal opacity Abnormality of the elbow Abnormality of the skull Abnormality of the endocrine system Villous atrophy Vaginal fistula Intractable diarrhea Bilateral ptosis Bruising susceptibility Webbed neck Mitral valve prolapse Low posterior hairline Narrow palate Cutis laxa Hyperextensible skin Redundant skin Hallux valgus Scarring Atrophic scars Thoracic scoliosis Abnormality of the vasculature Thin eyebrow Knee dislocation Squared iliac bones Shoulder dislocation Ventral hernia Papule Pes planus Secretory diarrhea Generalized myoclonic seizures Intellectual disability Seizures Wide nasal bridge Optic atrophy Ventriculomegaly Immunodeficiency Pneumonia Umbilical hernia Short metatarsal Macrotia Cone-shaped epiphysis Ectopic kidney Combined immunodeficiency Lacrimal duct stenosis Thin lower lip vermilion Cryptorchidism Ptosis Hernia Subcutaneous nodule Quadriceps muscle atrophy Abnormality of skeletal physiology Brain atrophy Clinodactyly Mitral regurgitation Agenesis of corpus callosum Polyhydramnios Pectus carinatum Finger syndactyly Inflammatory abnormality of the skin Dry skin Lymphedema Obesity Hyperkeratosis Molar tooth sign on MRI Abnormality of the dentition Enlarged joints Edema Muscle weakness Osteolysis involving bones of the upper limbs Short palm Pectus excavatum Malar flattening Osteolysis involving bones of the feet Flat face Cataract Kyphosis Cleft palate Nystagmus Broad forehead Platyspondyly Narrow chest Scoliosis Retinal detachment Aortic valve stenosis Hearing impairment Calcification of the aorta Pulmonary edema Coxa vara Short thorax Low-set ears Atopic dermatitis Macrocephaly Round face Generalized osteoporosis Talipes equinovarus Disproportionate short stature Gingival overgrowth Lumbar hyperlordosis Short thumb Accelerated skeletal maturation Growth abnormality Back pain Broad hallux Limited elbow extension Proportionate short stature Rheumatoid arthritis Joint swelling Exostoses Abnormality of tibia morphology Abnormality of the knee Low back pain Osteochondritis Dissecans Decreased hip abduction Limited elbow flexion Osteolysis Pain Hip dysplasia Ovoid vertebral bodies Short phalanx of finger Disproportionate short-limb short stature Genu varum Spondyloepiphyseal dysplasia Arthropathy Short femoral neck Irregular vertebral endplates Delayed epiphyseal ossification Generalized joint laxity Limited hip movement Avascular necrosis of the capital femoral epiphysis Irregular epiphyses Small epiphyses Broad femoral neck Hip osteoarthritis Pseudoepiphyses Premature osteoarthritis Short fourth metatarsal Bursitis



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